Canonical Allele Identifier: CA10378765

Gene: DMD

Linked Data

• ClinVar Variation Id: 423086
• ClinVar RCV Id: RCV003512049
• dbSNP Id: rs769383291
• ExAC: X:32382704 G / A
• gnomAD v2: X-32382704-G-A
• gnomAD v3: X-32364587-G-A
• gnomAD v4: X-32364587-G-A
• COSMIC: COSM5748286 ; COSM5748287 ; COSM5748288 ; COSM5748289
• MyVariant Identifiers: chrX:g.32382704G>A (hg19) ; chrX:g.32364587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32364587G>A , CM000685.2:g.32364587G>A	GRCh38
NC_000023.10:g.32382704G>A , CM000685.1:g.32382704G>A	GRCh37
NC_000023.9:g.32292625G>A	NCBI36
NG_012232.1:g.980023C>T , LRG_199:g.980023C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357033.9:c.5149C>T MANE Select	ENSP00000354923.3:p.Leu1717Phe
ENST00000619831.5:c.1117C>T	ENSP00000479270.2:p.Leu373Phe
ENST00000357033.8:c.5149C>T	ENSP00000354923.3:p.Leu1717Phe
ENST00000378677.6:c.5137C>T	ENSP00000367948.2:p.Leu1713Phe
ENST00000488902.5:n.336-147524C>T
ENST00000619831.4:c.5137C>T	ENSP00000479270.1:p.Leu1713Phe
ENST00000620040.4:c.5149C>T	ENSP00000478150.1:p.Leu1717Phe
NM_000109.3:c.5125C>T	NP_000100.2:p.Leu1709Phe
NM_004006.2:c.5149C>T , LRG_199t1:c.5149C>T	NP_003997.1:p.Leu1717Phe
NM_004009.3:c.5137C>T	NP_004000.1:p.Leu1713Phe
NM_004010.3:c.4780C>T	NP_004001.1:p.Leu1594Phe
NM_004011.3:c.1126C>T	NP_004002.2:p.Leu376Phe
NM_004012.3:c.1117C>T	NP_004003.1:p.Leu373Phe
XM_006724468.2:c.5149C>T	XP_006724531.1:p.Leu1717Phe
XM_006724469.2:c.5125C>T	XP_006724532.1:p.Leu1709Phe
XM_006724470.2:c.5149C>T	XP_006724533.1:p.Leu1717Phe
XM_006724471.2:c.5149C>T	XP_006724534.1:p.Leu1717Phe
XM_006724472.2:c.5020C>T	XP_006724535.1:p.Leu1674Phe
XM_006724473.2:c.5149C>T	XP_006724536.1:p.Leu1717Phe
XM_006724474.2:c.5149C>T	XP_006724537.1:p.Leu1717Phe
XM_006724475.2:c.5149C>T	XP_006724538.1:p.Leu1717Phe
XM_011545467.1:c.5149C>T	XP_011543769.1:p.Leu1717Phe
XM_011545468.1:c.5149C>T	XP_011543770.1:p.Leu1717Phe
XM_011545469.1:c.5149C>T	XP_011543771.1:p.Leu1717Phe
XM_006724469.3:c.5125C>T	XP_006724532.1:p.Leu1709Phe
XM_006724470.3:c.5149C>T	XP_006724533.1:p.Leu1717Phe
XM_006724474.3:c.5149C>T	XP_006724537.1:p.Leu1717Phe
XM_011545468.2:c.5149C>T	XP_011543770.1:p.Leu1717Phe
XM_017029328.1:c.5149C>T	XP_016884817.1:p.Leu1717Phe
XM_017029329.1:c.5149C>T	XP_016884818.1:p.Leu1717Phe
XM_017029330.2:c.5149C>T	XP_016884819.1:p.Leu1717Phe
NM_000109.4:c.5125C>T	NP_000100.3:p.Leu1709Phe
NM_004006.3:c.5149C>T MANE Select	NP_003997.2:p.Leu1717Phe
NM_004011.4:c.1126C>T	NP_004002.3:p.Leu376Phe
NM_004012.4:c.1117C>T	NP_004003.2:p.Leu373Phe